OSTEOGENESIS IMPERFECTA, TYPE IV

General Information (adopted from Orphanet):

Synonyms, Signs: OSTEOGENESIS IMPERFECTA WITH NORMAL SCLERAE
OI, TYPE IV
OI4
Number of Symptoms 14
OrphanetNr:
OMIM Id: 166220
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002645) Wormian bones 65 / 7739
2
(HPO:0000703) Dentinogenesis imperfecta 18 / 7739
3
(HPO:0000365) Hearing impairment 539 / 7739
4
(HPO:0000362) Otosclerosis 10 / 7739
5
(HPO:0002650) Scoliosis 705 / 7739
6
(HPO:0003321) Biconcave flattened vertebrae 5 / 7739
7
(HPO:0003023) Bowing of limbs due to multiple fractures 6 / 7739
8
(HPO:0002757) Recurrent fractures 47 / 7739
9
(HPO:0002808) Kyphosis 289 / 7739
10
(HPO:0005005) Femoral bowing present at birth, straightening with time 2 / 7739
11
(OMIM) Normal-greyish sclerae 1 / 7739
12
(OMIM) Mild-moderate skeletal deformity 1 / 7739
13
(OMIM) Pale blue sclerae (10% of the cases) 1 / 7739
14
(OMIM) Short stature, often below 5th percentile 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Osteogenesis imperfecta (OI) is a connective tissue disorder that is caused by an abnormality of type I collagen in over 90% of cases. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes: ...
Clinical Description OMIM On the basis of a study in Australia, Sillence et al. (1979) concluded that in addition to dominantly inherited osteogenesis imperfecta with blue sclerae (OI type I) there is a variety with normal sclerae. This agreed with the ...
Molecular genetics OMIM In a child with OI type IV, Marini et al. (1989) identified a mutation in the COL1A1 gene (120150.0012). See also de Vries and de Wet (1986) and 120150.0003.

In a patient with OI type IV, ...